News

Unique BICD2 mutation causes severe SMA-LED: Case study

Researchers reported a unique mutation that supported an 8-year-old girl’s diagnosis of spinal muscle atrophy with lower extremity predominance (SMA-LED). The mutation, mapped to the BICD2 gene, resulted in a severe form of SMA-LED, type 2B, that emerged before birth and was primarily marked by joint contractures in infancy.

SMA’s effects on gene activity vary across tissues: Study

The activity of many genes may be dysregulated in spinal muscular atrophy (SMA), but the way the disease affects genes seems to vary across different types of tissues in the body, a study found. “Our comparative meta-analysis identified only few genes and pathways that were consistently dysregulated in SMA…

Study calls for streamlined SMA treatment in Australia

Slightly more than half of spinal muscular atrophy (SMA) patients in Australia who gave feedback for a study on how well they thought their treatments worked did not notice any improvement. The researchers said the results suggest a need for better, more comprehensive healthcare. More children than adults with…

Myosin protein patterns differ in early SMA type 1: Study

The muscle fibers of children with spinal muscular atrophy (SMA) type 1 are substantially different from those of age-matched peers early in life, a study found. Muscle fibers are the basic units of muscle tissue that contract to allow movement. The differences were evident in levels and types of components…